ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu)

gnomAD frequency: 0.00005  dbSNP: rs750860886
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262181 SCV000337611 uncertain significance not provided 2015-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648008 SCV000769818 likely benign Qualitative or quantitative defects of dysferlin 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004619242 SCV005112234 uncertain significance Inborn genetic diseases 2024-06-05 criteria provided, single submitter clinical testing The c.5757T>G (p.D1919E) alteration is located in exon 51 (coding exon 51) of the DYSF gene. This alteration results from a T to G substitution at nucleotide position 5757, causing the aspartic acid (D) at amino acid position 1919 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001276869 SCV001463484 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-08 no assertion criteria provided clinical testing

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